A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068580



Internal ID20313898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46023802..46030598hg38UCSC Ensembl
chr2:46250941..46257737hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386797
hg196797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15866837
Samples
Known GenesPRKCE
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4068580
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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